Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.
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| Title: | Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder. |
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| Authors: | Stringer RN; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic., Tang X; Department of General, Inorganic and Theoretical Chemistry, Center for Molecular Bioscience Innsbruck, University of Innsbruck, Innsbruck, Austria., Jurkovicova-Tarabova B; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.; Department of Biology, Faculty of Education, Trnava University, Trnava, Slovakia., Murphy M; Patient's Family Representative, Kansas City, Missouri, USA., Liedl KR; Department of General, Inorganic and Theoretical Chemistry, Center for Molecular Bioscience Innsbruck, University of Innsbruck, Innsbruck, Austria., Weiss N; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic. nalweiss@gmail.com.; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia. nalweiss@gmail.com. |
| Source: | Molecular brain [Mol Brain] 2025 Mar 25; Vol. 18 (1), pp. 26. Date of Electronic Publication: 2025 Mar 25. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101468876 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-6606 (Electronic) Linking ISSN: 17566606 NLM ISO Abbreviation: Mol Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1756-6606 |
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| DOI: | 10.1186/s13041-025-01195-w |
